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rs80358215

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80358215(C;T)
Make rs80358215(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position182384506
GeneGLUL
is asnp
is mentioned by
dbSNPrs80358215
ebirs80358215
HLIrs80358215
Exacrs80358215
Varsomers80358215
Maprs80358215
PheGenIrs80358215
hapmaprs80358215
1000 genomesrs80358215
hgdprs80358215
ensemblrs80358215
gopubmedrs80358215
geneviewrs80358215
scholarrs80358215
googlers80358215
pharmgkbrs80358215
gwascentralrs80358215
openSNPrs80358215
23andMers80358215
23andMe allrs80358215
SNP Nexus

SNPshotrs80358215
SNPdbers80358215
MSV3drs80358215
GWAS Ctlgrs80358215
Max Magnitude0
OMIM138290
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80358215(T;T)
Alt rs80358215(T;T)
Reference rs80358215(C;C)
Significance Pathogenic
Disease Glutamine deficiency
Variation info
Gene GLUL
CLNDBN Glutamine deficiency, congenital
Reversed 1
HGVS NC_000001.10:g.182353641G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017464.27,